Canonical Allele Identifier: CA1949570093
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226910C= , CM000673.2:g.5226910C= GRCh38
NC_000011.9:g.5248140C= , CM000673.1:g.5248140C= GRCh37
NC_000011.8:g.5204716C= NCBI36
NG_000007.3:g.70706G=
NG_059281.1:g.5162G=

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+20G= ENSP00000494175.1:n.92+20G=
ENST00000335295.4:c.92+20G= MANE Select ENSP00000333994.3:n.92+20G=
ENST00000380315.2:c.92+20G= ENSP00000369671.2:n.92+20G=
ENST00000485743.1:n.143+20G=
ENST00000633227.1:c.76+36G= ENSP00000488004.1:n.76+36G=
NM_000518.4:c.92+20G= NP_000509.1:n.92+20G=
NM_000518.5:c.92+20G= MANE Select NP_000509.1:n.92+20G=
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